Chromosomal Microarray Analysis (CMA) is a genome-wide technology that allows for identification of genomic alterations, such as deletions and duplications, at an unprecedented resolution. However, many genetic variations are identified that have unknown or uncertain clinical significance. New clinical guidelines recommend CMA testing for children with Autism Spectrum Disorder (ASD). ASD is one of the most common serious developmental disorders, found in almost 1% of children in the United States. Increasingly, families are offered testing, and there is an immediate need to help affected families cope with complex and uncertain test results. This study will investigate the psychosocial impact on parents of children with ASD receiving CMA testing, and identify potential interventions for managing the uncertainty associated with the test results and their implications. Test results fall into three categories: (1) Negative, the normal pattern; (2) Positive for a deletion/duplication known to cause pathology, the abnormal pattern; and (3) Ambiguous, a variant of unknown clinical significance. We propose to interview 60 parents of children with ASD who have been tested by CMA: 20 parents of children with results in each of the three categories (normal, abnormal and ambiguous). We will conduct open-ended, semi-structured telephone interviews and use qualitative methods of analysis, including grounded theory and content analysis, to analyze the perspectives of parents regarding the testing experience and impact of CMA test results. The aims of the study are to: (1) Describe parents' experiences of testing, including expectations of what CMA might provide, understanding of results, perceived value of the test results, perceived benefits and harms, and use of results in decisions about the child's medical and educational options; (2) Explore the psychosocial implications of uncertain results, and whether the results have influenced the way parents cope with having a child with ASD; constructs explored will include parental uncertainty, stress, stigma, self-blame, hope, and sense of control in relation to the child's condition; and (3) Examine similarities and differences based on type of result (negative, positive or ambiguous), socio-demographic background, and length of time since testing. We will identify challenges and ways of coping that parents of children with ASD tested by CMA find effective. Based on our findings we will recommend interventions for health providers and families in order to improve communication about genetic test results, address the stressful aspects of testing, and suggest effective ways to deal with the uncertainty associated with this new medical technology. PUBLIC HEALTH RELEVANCE: Technological advances in genetics have increased both the ability to detect chromosomal changes associated with ASD, and the uncertainty surrounding the meaning of results. Given the high prevalence of ASD in the US population, there is significant public health value in studying the impact of genome-wide testing on the families of children with ASD, and developing evidence-based interventions for providers and parents. The interventions would improve understanding, communication and coping with the complex, uncertain genetic information that the test provides.